The clinical data and genetic test results of a 7-year-old female child with cerebral cavernoma were retrospectively analyzed. The child was admitted to the hospital due to a one-month headache. Brain MRI showed cerebral cavernoma. The genetic testing showed a pathogenic heterozygous mutation c.456T＞G (p.Tyr152Ter, 61) in the programmed cell death 10 (PDCD10) gene, while both parents had the wild-type at the locus. The child had no symptoms of epileptic seizures, cerebral hemorrhage, or neurological dysfunction, and received conservative treatment, with regular outpatient follow-up MRI scans.

Diabetic retinopathy(DR)is one of the most common and severe microvascular complications in diabetic patients and has become one of the leading causes of blindness worldwide. With the continuous rise in the prevalence of diabetes, in-depth exploration of the pathogenesis of DR and effective intervention measures is of great clinical significance. The mechanistic target of rapamycin(mTOR), as a protein kinase, is widely involved in cellular processes such as growth, metabolism, and autophagy. Research indicates that the mTOR signaling pathway plays a crucial regulatory role in the pathological progression of DR, and its abnormal activity can disrupt retinal cell autophagy function, thereby accelerating cellular damage and disease progression. Autophagy, as an important regulatory mechanism for cellular homeostasis, maintains cellular functional balance by clearing damaged organelles and protein aggregates. This article provides a systematic review of the structural and functional aspects of the mTOR signaling pathway, the molecular regulatory mechanisms of autophagy, and their roles in retinal pathological changes. By summarizing current research findings, the article aims to clarify the key regulatory role of the mTOR-autophagy axis in DR, providing theoretical support for elucidating the molecular pathogenesis of DR and offering potential targets and research directions for developing novel targeted therapeutic strategies, thereby holding significant scientific and clinical value.

With the accelerated aging society in China, the incidence of biliary surgical diseases in the elderly has increased significantly. The clinical characteristics of these patients indicate that improving treatment outcomes and realizing healthy aging are worthy of attention. How to effectively improve the treatment effect of geriatric biliary surgical diseases has attracted widespread attention. This paper reviews and comments on the hotspots and difficulties of biliary surgery in older patients from six aspects: (1) higher morbidity associated with an aging society, (2) prevention and control of pre-operative risks, (3) extending the indications of laparoscopic surgery, (4) urgent standardization of minimally invasive surgery, (5) precise technological progress in hepatobiliary surgery, and (6) guarantee of peri-operative safety. It is of great significance to fully understand the focus of controversy, actively make use of its favorable factors, and effectively avoid its unfavorable factors, for further improving the therapeutic effects of geriatric biliary surgical diseases, and thus benefits the vast older patients with biliary surgical diseases. Accordingly, a historical record with the highest age of 93 years for laparoscopic transcystic common bile duct exploration has been created by us recently.
Humans ; Aged ; Aged, 80 and over ; Biliary Tract Surgical Procedures ; Gallstones ; Laparoscopy ; Treatment Outcome ; Aging ; Retrospective Studies

Objective:To analyze the change of differential genes and signaling pathways in high glucose induced BV2 cells, and to explore the mechanism of transgelin-2 (TAGLN2) regulating cellular inflammatory response and metabolic process.Methods:An experimental study. The cultured BV2 cells were divided into mannitol treatment (Man) group, glucose treatment (Glu) group, overexpression control Glu treatment (Con) group, overexpression TAGLN2 Glu treatment group, silence control Glu treatment (shCon Glu) group, and silence TAGLN2 Glu treatment (shTAGLN2 Glu) group. Cells in the Man group were cultured in modified Eagle high glucose medium (DMEM) containing 25 mmol/L mannitol and 25 mmol/L glucose, cells in other groups (Glu group, Con Glu group, TAGLN2 Glu group, shCon Glu group and shTAGLN2 Glu group) were cultured in DMEM medium containing 50 mmol/L glucose. After 24 hours of cells culture, transcriptome sequencing of cells in each group were performed using high-throughput sequencing technology, and significantly differentially expressed genes (DEG) were screened. |log 2 (fold change)|≥1 and P≤0.05 were adopted as criteria to screen for DEG. Gene Ontology (GO) function enrichment analysis, Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis and protein-protein interaction network analysis were performed. Real-time polymerase chain reaction (RT-PCR) was used to detect the relative expression level of DEG mRNA. The data between groups were compared by independent sample t-test. Results:When compared with Man group, a total of 517 differentially expressed genes were screened in Glu group, which including 277 up-regulated genes and 240 down-regulated genes. KEGG pathway enrichment analysis showed that the up-regulated genes were significantly enriched in immune system processes such as nuclear factor (NF)-κB signal pathway, Jak-signal transducers and activators of transcription (STAT) signal pathway, while down-regulated genes were significantly enriched in glycosaminoglycan degradation and glyceride metabolic pathway. Compared with Con Glu group, a total of 480 DEG were screened in TAGLN2 Glu group, among which 147 up-regulated and 333 down-regulated genes were detected. Up-regulated genes were significantly enriched in the metabolic processes of fatty acid, glyceride and pyruvate, while down-regulated genes were significantly enriched in immune system processes such as NF-κB signal pathway, Jak-STAT signal pathway and tumor necrosis factor (TNF) signal pathway. Compared with shCon Glu group, a total of 582 DEG were screened in shTAGLN2 Glu group, among which 423 up-regulated and 159 down-regulated genes were detected. Up-regulated DEG were significantly enriched in immune system processes such as TNF signal pathway and chemokine signal pathway, while down-regulated DEG were significantly enriched in pattern recognition receptor signal pathway. RT-PCR results showed that the relative expression levels of DEG mRNA Card11 ( t=13.530), Icos ( t=3.482), Chst3 ( t=6.949), Kynu ( t=5.399), interleukin (IL)-1β ( t=2.960), TNF-α ( t=5.800), IL-6 ( t=3.130), interferon-γ ( t=7.690) and IL-17 ( t=6.530) in the TAGLN2 Glu treatment group were decreased significantly compared with Con Glu group, and the difference was statistically significant. Conclusion:TAGLN2 can inhibit glucose induced microglia inflammation by NF-κB and Jak-STAT signaling pathways, Card11, Icos, Chst3 and Kynu play an important role in the anti-inflammatory process of TAGLN2.

Objective:To observe the efficacy of pars plana vitrectomy (PPV) in the treatment of different types of chorioretinal coloboma with retinal detachment (RD).Methods:A single-center, retrospective clinical study. From April 2021 to March 2023, 24 eyes of 23 patients who were diagnosed as chorioretinal coloboma with RD in Henan Provincial Eye Hospital were included in this study. There were 11 males with 12 eyes and 12 females with 12 eyes. The mean age was (33.3±13.7) years old. Best corrected visual acuity (BCVA), spectral domain optical coherence tomography were performed. The BCVA examination was performed using a international standard logarithmic visual acuity chart, which was converted into logarithm of the minimum angle of resolution (logMAR) visual acuity during statistics. According to the types of chorioretinal coloboma, the affected eyes were divided into the coloboma involved the optic disc group and the coloboma not involved the optic disc group, with 15 eyes and 9 eyes. According to whether the RD containing the coloboma area, the affected eyes were divided into RD containing the coloboma area group and the RD not containing the coloboma area group, with 15 eyes and 9 eyes. All eyes underwent standard pars plana three-channel 25G PPV, retinal laser photocoagulation combined with silicone oil tamponade. The follow-up time after surgery was (19.5±16.3) months. The last follow-up was the time point for efficacy determination. The retinal reattachment, BCVA recovery and postoperative complications were observed. Paired t-test or t test was performed for comparison of quantitative data. Fisher's exact test was performed for comparison of qualitative data. Results:At the last follow-up, retinal reattachment was achieved in 20 eyes (83.3%, 20/24). The logMAR BCVA of the coloboma involved the optic disc group before and after surgery were 1.85±0.62 and 1.71±0.71, the difference was no significant ( t=0.845 , P=0.412). The logMAR BCVA of the coloboma not involved the optic disc group before and after surgery were 1.75±0.45 and 0.84±0.26, the difference was statistically significant ( t=6.153 , P<0.001). The improvement of BCVA in the coloboma not involved the optic disc group was significantly higher than that in the coloboma involved the optic disc group after surgery, with statistically significant differences ( t=3.024 , P=0.006). There was no significant difference in the retinal reattachment rate between the two groups ( P=0.615). There was no significant difference in the retinal reattachment rate between the RD containing the coloboma area group and the RD not containing the coloboma area group ( P=0.259). Postoperative complications included elevated intraocular pressure in five eyes, cataract progression in ten eyes, recurrent RD in two eyes, bullous keratopathy in one eye and band-shaped keratopathy in one eye. Conclusion:PPV combined with silicone oil tamponade is safe and effective in the treatment of chorioretinal coloboma with RD, the improvement of visual acuity in the coloboma not involved the optic disc group is better than that in the coloboma involved the optic disc group after surgery.

Objective:To analyze differentially expressed genes (DEGs) and the changes of signal pathways in human retinal pigment epithelium cells (ARPE-19) under hypoxic and normoxic conditions and to explore the biological mechanism of hypoxia-induced ARPE-19 cell damage via transcriptome sequencing (RNA-seq) and bioinformatics technology.Methods:The ARPE-19 cells were divided into the hypoxia treatment group and the normoxia control group treated with 1% and 21% O 2 by volume for 8, 24, 48, 72 hours, respectively.The relative expression levels of vascular endothelial growth factor (VEGF) and hypoxia-inducible factor-1α (HIF-1α) mRNA were detected with real-time fluorescent quantitative PCR at different time points.RNA-seq and bioinformatics analysis were performed at 8 hours and 24 hours after hypoxia and normoxia treatment.DEGs were screened out under the conditions of |log 2FC|≥1 and P≤0.05.Then the cluster heat map analysis, Gene Ontology (GO) functional enrichment analysis, Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis and protein-protein interaction network analysis were also carried out.Real-time fluorescent quantitative PCR was employed at 24 hours after hypoxia to detect the relative mRNA expression of genes that might be related to hypoxia in DEGs.Cell viability kit was used to verify and compare the damage effect of hypoxia on ARPE-19 cells at different time points between the two groups. Results:The relative mRNA expression levels of VEGF at 8, 24, 48 and 72 hours after hypoxia treatment and the relative HIF-1α mRNA expression levels at 8, 24 and 48 hours after hypoxia treatment were significantly higher than those of the normoxia control group (all at P<0.05). There were large differences in the mRNA expression levels at 8-hour and 24-hour treatment between the two groups.A total of 62 significant DEGs were screened between the hypoxia treatment group and the normoxia control group after 8-hour hypoxia treatment, among which 45 genes were significantly up-regulated and 17 genes were significantly down-regulated.A total of 255 significant DEGs were screened out between the hypoxia treatment group and the normoxia control group after 24-hour hypoxia treatment, among which 228 genes were significantly up-regulated and 27 genes were significantly down-regulated.The GO functional analysis of DEGs was mainly enriched in processes such as protein degradation, nucleotide biosynthesis, and material transport.KEGG pathway analysis was mainly enriched in PI3K-Akt, cGMP-PKG, and other signaling pathways closely related to metabolism, cell cycle, cell growth, and apoptosis.The core genes HPCA, MT3 and NOS3 were found by protein-protein interaction network analysis.Real-time fluorescent quantitative PCR test results showed that after 24-hour hypoxia treatment, the mRNA expression levels of hypoxia related genes DEPP1, NPPB, PDZK1, HILPDA, TCEA3, NDRG1 and RORC in ARPE-19 cells were significantly increased and the mRNA expression levels of TFRC and NQO1 were significantly decreased (all at P<0.05). The cell morphology was normal and the growth state was good without dead cells after 8-hour and 24-hour hypoxia treatment in ARPE-19 cells.There were dead cells after 48-hour hypoxia treatment, and the number of dead cells was increased at 72 hours after hypoxia treatment. Conclusions:The PI3K-Akt and cGMP-PKG signaling pathways related to metabolism may be involved in hypoxia-induced injury of ARPE-19 cells.Core genes of HPCA, MT3 and NOS3 can be used as functional target genes and play key roles in hypoxia response of cells.

Objective:To analyze the association between high density lipoprotein cholesterol (HDL-C) and the risk of cardiovascular disease mortality.Methods:A total of 71 618 residents aged over 18 years with complete baseline data, who were filed on the health information big data platform of Yinzhou district, Ningbo city, Zhejiang Province from 2009 to 2014, were selected as the research population. The research population were divided into four groups according to the level of HDL-C: low-level group (HDL-C<1.0 mmol/L), intermediate-level group (1.0 mmol/L≤HDL-C<1.5 mmol/L), medium-high-level group (1.5 mmol/L≤HDL-C<2.0 mmol/L) and high-level group (HDL-C≥2.0 mmol/L). Cox proportional hazard model was used to calculate the risk ratio of cardiovascular diseases mortality in different groups.Results:The study population was followed up for a total of 427 989.4 person-years, follow-up time of (5.98±1.04)years. During the follow-up period, there were 799 deaths due to cardiovascular diseases. After adjusting for confounding factors, compared with the medium-high-level group as the reference group, the HR (95% CI) for cardiovascular diseases mortality was 1.43 (1.13-1.82) in the low-level group and 1.22 (1.02-1.46) in the high-level group. Conclusion:The low level of HDL-C (<1.5 mmol/L) is associated with a higher risk of cardiovascular disease deaths. The level of HDL-C can be used as a biological indicator to monitor the development of cardiovascular diseases and guide treatment.

Objective:To analyze the association between high density lipoprotein cholesterol (HDL-C) and the risk of cardiovascular disease mortality.Methods:A total of 71 618 residents aged over 18 years with complete baseline data, who were filed on the health information big data platform of Yinzhou district, Ningbo city, Zhejiang Province from 2009 to 2014, were selected as the research population. The research population were divided into four groups according to the level of HDL-C: low-level group (HDL-C<1.0 mmol/L), intermediate-level group (1.0 mmol/L≤HDL-C<1.5 mmol/L), medium-high-level group (1.5 mmol/L≤HDL-C<2.0 mmol/L) and high-level group (HDL-C≥2.0 mmol/L). Cox proportional hazard model was used to calculate the risk ratio of cardiovascular diseases mortality in different groups.Results:The study population was followed up for a total of 427 989.4 person-years, follow-up time of (5.98±1.04)years. During the follow-up period, there were 799 deaths due to cardiovascular diseases. After adjusting for confounding factors, compared with the medium-high-level group as the reference group, the HR (95% CI) for cardiovascular diseases mortality was 1.43 (1.13-1.82) in the low-level group and 1.22 (1.02-1.46) in the high-level group. Conclusion:The low level of HDL-C (<1.5 mmol/L) is associated with a higher risk of cardiovascular disease deaths. The level of HDL-C can be used as a biological indicator to monitor the development of cardiovascular diseases and guide treatment.

Objective:To evaluate the safety and feasibility of intranodal lymphangiography combined thoracic duct embolization in the treatment of chylous leakage.Methods:The clinical data of ten patients with chylous leakage from July to December 2019 in the First Affiliated Hospital of Zhengzhou University were retrospectively analyzed. There were 6 cases of chylothorax, 1 case of chylous ascites, and 3 cases of chylothorax combined with chylous ascites, respectively. Conservative treatment was invalid in all cases. The locations of cisterna chyli and thoracic duct were defined by percutaneous puncture intranodal lymphangiography. Then the percutaneous transabdominal puncture of cisterna chyli was performed and the microcatheter was inducted. The location of fistula was visualized by thoracic duct lymphangiography, and the embolization was performed by microcoils combined tissue adhesive agents. The post-operative curative effect and complications were recorded.Results:One patient did not receive thoracic duct embolization because it was failed to visualize cisterna chyli by intranodal lymphatic angiography; thoracic duct embolization was successfully performed in the other 9 patients after chylous leakage fistula was located. Percutaneous transabdominal puncture of cisterna chyli was successfully accomplished in 8 patients. As for the other patient, after repeated failure of puncture, fluoroscopy-guided retrograde puncture at the proximal thoracic duct was performed successfully. After the operation, the drain output was completely disappeared within 3 to 7 days in 8 patients, and decreased down to 120 ml/d in 1 patient. Mild abdominal hemorrhage was found in 1 patient after thoracic duct embolization, without any treatment. No serious complications was found in all cases.Conclusion:Intranodal lymphangiography and thoracic catheter embolization is safe and effective in the treatment of chylous leakage, with a low complication rate.

Objective:To explore the influencing factors of fatigue after stent implantation in patients with airway stenosis.Methods:Totally 104 patients with airway stenosis hospitalized in a hospital from July 2016 to June 2019 were selected, and all the patients were planned to received stent implantation. The patients were evaluated with Identity-Consequence Fatigue Scale (ICFS) postoperatively, and divided into the fatigue group and the non-fatigue group according to the evaluate results. The data of the two groups were consulted, and their gender, age, primary tumor, combined underlying disease, postoperative physical activity, pathological staging, history of radical surgery before stenting, preoperative radiotherapy and chemotherapy, degree of stenosis, type of stenosis, infiltration juga, stent placement site, and re-intervention after stenting were analyzed. Univariate and Logistic regression analysis were performed over the above influencing factors.Results:All the 104 patients with airway stenosis completed postoperative fatigue evaluation. The total score of ICFS was (82.16±8.07) . The scores of postoperative fatigue, attention, vitality, energy, daily activities and the total score were higher than those before operation, and the differences were statistically significant ( P<0.01) . Among the 104 patients with airway stenosis, 28 developed postoperative fatigue, with an incidence of 26.92%. Univariate and multivariate Logistic analysis revealed that postoperative physical activity, pathological staging, infiltrating and re-intervention after stenting were the main influencing factors to fatigue after stent implantation in patients with airway stenosis ( P<0.05) . Conclusions:Patients with airway stenosis have a high incidence of fatigue after stent implantation, which is affected by many factors. Effective intervention measures should be formulated according to the risk factors in order to reduce the incidence of postoperative fatigue.